FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ID (Ontology) DOID:0112359 (Human Disease)
Definition A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene.
Also Known As "CAKUTHED"
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 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay       1
 for disease ribbon | congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay       1
 model of | congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay       1
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "CAKUTHED" EXACT OMO:0003012
Secondary IDs
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MIM:617641